Table 1 BCOR internal tandem duplications identified in CCSK patients.
From: Recurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney
Sample | Patient age (years) | Patient sex | ITD length (bp) | ITD genotype | Nucleotide (gDNA) * | Nucleotide (cDNA) | Amino acid (protein) |
|---|---|---|---|---|---|---|---|
347T | 0.9 | M | 96 | Type I | chrX:39,911,364–39,911,459 | c.5171_5266dup | p.L1724_W1755dup |
383T | 1.1 | M | 96 | Type I | chrX:39,911,364–39,911,459 | c.5171_5266dup | p.L1724_W1755dup |
385T | 1.9 | M | 87 | Type IV | chrX:39,911,406–39,911,492† | c.5138_5224dup | p.V1741_E1742insV+p.L1713_V1741dup |
380T | 1.2 | M | 93 | Type II | chrX:39,911,374–39,911,466 | c.5164_5256dup | p.E1722_D1752dup |
382T | 1.8 | M | 90 | Type III | chrX:39,911,405–39,911,494 | c.5136_5225dup | p.D1712_V1741dup |
384T | 2.2 | M | 96 | Type I | chrX:39,911,364–39,911,459 | c.5171_5266dup | p.L1724_W1755dup |
474T | 0.6 | M | 93 | Type II | chrX:39,911,374–39,911,466 | c.5164_5256dup | p.E1722_D1752dup |
499T | 3.5 | F | 96 | Type I | chrX:39,911,364–39,911,459 | c.5171_5266dup | p.L1724_W1755dup |
501T | 1.6 | F | 93 | Type II | chrX:39,911,374–39,911,466 | c.5164_5256dup | p.E1722_D1752dup |
504T | 2.7 | F | 114 | Type V | chrX:39,911,418–39,911,531 | c.5099_5212dup | p.G1738E+p.V1701_L1737dup |
624T | 2.9 | F | 96 | Type I | chrX:39,911,364–39,911,459 | c.5171_5266dup | p.L1724_W1755dup |
